Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut C20orf26 26074 broad.mit.edu 37 20 20071504 20071504 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:20071504G>A ENST00000245957.5 + 7 659 c.583G>A c.(583-585)Gat>Aat p.D195N C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 195 p.D195N(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGACCATGACGATCTCATGCC 0.438000 30 80 0 0 0.000409698 0 0 ISG20 3669 broad.mit.edu 37 15 89182723 89182723 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:89182723C>T ENST00000306072.5 + 2 484 c.126C>T c.(124-126)ttC>ttT p.F42F ISG20_ENST00000379224.5_Silent_p.F42F|ISG20_ENST00000560741.1_Silent_p.F42F NM_002201.4 NP_002192.2 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease gene 20kDa 42 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity large_intestine(1)|lung(3)|prostate(1) 5 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) ACGACAAGTTCATCCGGCCTG 0.647000 6 28 0 0 3.59834e-05 0 0 OR5D13 390142 broad.mit.edu 37 11 55541597 55541597 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:55541597G>A ENST00000361760.1 + 1 684 c.684G>A c.(682-684)atG>atA p.M228I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CTACCATTATGAAGATGCGAT 0.418000 7 39 0 0 8.12818e-05 0 0 NWD1 284434 broad.mit.edu 37 19 16910720 16910720 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:16910720G>A ENST00000524140.2 + 17 3901 c.3483G>A c.(3481-3483)ggG>ggA p.G1161G NWD1_ENST00000523826.1_Silent_p.G955G|NWD1_ENST00000379808.3_Silent_p.G1161G|NWD1_ENST00000552788.1_Silent_p.G1161G|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000339803.6_Silent_p.G1026G NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1161 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAGAACAGGGGACCCTTCTGG 0.577000 9 33 0 0 0.000673444 0 0 SEMA4F 10505 broad.mit.edu 37 2 74906773 74906773 + Missense_Mutation SNP G G T rs150970311 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:74906773G>T ENST00000357877.2 + 14 1899 c.1750G>T c.(1750-1752)Gtc>Ttc p.V584F SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.V429F NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 584 Ig-like C2-type. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 TGCGCATGTGGTCTTGCCATG 0.572000 16 113 9.16793e-09 1.57823e-07 0.000566183 1 0 RNF17 56163 broad.mit.edu 37 13 25376549 25376549 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr13:25376549G>A ENST00000255324.5 + 14 1841 c.1789G>A c.(1789-1791)Gaa>Aaa p.E597K RNF17_ENST00000255325.5_Missense_Mutation_p.E598K|RNF17_ENST00000381921.1_Missense_Mutation_p.E597K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 597 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGCTAAAGTGGAATTTTTGAA 0.333000 6 60 0 0 3.59834e-05 0 0 KRT32 3882 broad.mit.edu 37 17 39623286 39623286 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:39623286C>T ENST00000225899.3 - 1 395 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 98 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) TGCATGGTTTCCTTCTCATTG 0.607000 6 67 0 0 0.000157383 0 0 RNF148 378925 broad.mit.edu 37 7 122342725 122342725 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:122342725A>T ENST00000434824.1 - 1 296 c.80T>A c.(79-81)cTt>cAt p.L27H CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.L27H|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 27 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 AGGAAAGCTAAGTAGTAGAAA 0.408000 4 17 0 0 0.00024832 0 0 IWS1 55677 broad.mit.edu 37 2 128262652 128262652 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:128262652G>A ENST00000295321.4 - 3 1086 c.827C>T c.(826-828)tCg>tTg p.S276L IWS1_ENST00000455721.2_Missense_Mutation_p.S283L|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 276 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTCACTTTCCGAATCACTGAT 0.542000 38 108 0 0 0.000437636 0 0 NLGN3 54413 broad.mit.edu 37 X 70387190 70387190 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:70387190G>A ENST00000374051.3 + 6 1505 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K NLGN3_ENST00000536169.1_Missense_Mutation_p.E375K|NLGN3_ENST00000358741.3_Missense_Mutation_p.E415K|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 415 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CAAGTTTGTGGAAGGGGTGGT 0.512000 11 36 0 0 0.000978159 0 0 ZNF558 148156 broad.mit.edu 37 19 8922255 8922255 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:8922255C>T ENST00000601372.1 - 10 1622 c.911G>A c.(910-912)aGc>aAc p.S304N ZNF558_ENST00000301475.1_Missense_Mutation_p.S304N|ZNF558_ENST00000444186.2_Missense_Mutation_p.S233N Q96NG5 ZN558_HUMAN zinc finger protein 558 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CAGATAGGAGCTCTTCCTGAA 0.443000 8 48 0 0 0.000274275 0 0 F11 2160 broad.mit.edu 37 4 187197534 187197534 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr4:187197534G>A ENST00000264692.4 + 7 922 c.589G>A c.(589-591)Gaa>Aaa p.E197K F11_ENST00000403665.2_Missense_Mutation_p.E249K P03951 FA11_HUMAN coagulation factor XI 249 blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) ATGGCCCAAAGAATCTCAAAG 0.378000 5 39 0 0 0.000602214 0 0 MOV10L1 54456 broad.mit.edu 37 22 50558939 50558939 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr22:50558939G>A ENST00000262794.5 + 10 1546 c.1463G>A c.(1462-1464)aGa>aAa p.R488K MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R468K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R488K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R488K NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 488 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGGAACTCAAGACGACAACTT 0.338000 6 60 0 0 3.59834e-05 0 0 RAB27B 5874 broad.mit.edu 37 18 52546620 52546620 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr18:52546620G>A ENST00000262094.5 + 3 695 c.174G>A c.(172-174)ccG>ccA p.P58P RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 58 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) CACAAGGACCGAATGGATCTT 0.403000 14 38 0 0 0.000308642 0 0 NPAP1 23742 broad.mit.edu 37 15 24922338 24922338 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:24922338C>T ENST00000329468.2 + 1 1798 c.1324C>T c.(1324-1326)Cct>Tct p.P442S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCCTATCCCTCCACTTTC 0.527000 10 55 0 0 0.000442599 0 0 GPR98 84059 broad.mit.edu 37 5 89990022 89990022 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr5:89990022G>A ENST00000405460.2 + 33 7545 c.7449G>A c.(7447-7449)agG>agA p.R2483R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2483 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGACCTACAGGAAAAACATGA 0.493000 4 33 0 0 0.00024832 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258248 25258248 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr16:25258248A>T ENST00000328086.7 - 5 2072 c.1269T>A c.(1267-1269)gaT>gaA p.D423E NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 423 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TCAACAAAGCATCCATGTCCT 0.488000 15 77 0 0 0.000219431 0 0 BPIFB4 149954 broad.mit.edu 37 20 31680353 31680353 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:31680353C>T ENST00000375483.3 + 9 1233 c.1233C>T c.(1231-1233)ccC>ccT p.P411P NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 411 cytoplasm|extracellular region lipid binding AGCTGCCTCCCATGGGTGACA 0.592000 12 44 0 0 0.000151284 0 0 RASGRF1 5923 broad.mit.edu 37 15 79291148 79291148 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:79291148C>T ENST00000419573.3 - 19 3088 c.2814G>A c.(2812-2814)agG>agA p.R938R RASGRF1_ENST00000394745.3_Silent_p.R154R|RASGRF1_ENST00000558480.2_Silent_p.R922R|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 940 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGTCTCCATTCCTCTGGTCTG 0.577000 5 28 0 0 0.000602214 0 0 GPC4 2239 broad.mit.edu 37 X 132458257 132458257 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:132458257G>A ENST00000370828.3 - 3 1151 c.627C>T c.(625-627)ctC>ctT p.L209L GPC4_ENST00000535467.1_Silent_p.L139L NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 209 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GAGTAACCTGGAGCTTCAATT 0.512000 9 74 0 0 0.000274275 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708449 108708449 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:108708449G>A ENST00000218006.2 - 3 1245 c.954C>T c.(952-954)tcC>tcT p.S318S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 318 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCTTTTCTTGGGACTCCACTG 0.473000 12 115 0 0 0.000151284 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847233 47847233 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr6:47847233G>A ENST00000339488.4 - 3 1380 c.1347C>T c.(1345-1347)ttC>ttT p.F449F NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 449 integral to membrane hedgehog receptor activity GTTCACGGAGGAAGTGCTGAA 0.453000 7 41 0 0 8.12818e-05 0 0 XIST 7503 broad.mit.edu 37 X 73064974 73064974 + RNA SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:73064974C>T ENST00000429829.1 - 0 7614 NR_001564.2 TGGTTGTGGTCACATACAATT 0.498000 13 76 0 0 0.000151284 0 0 DCHS2 54798 broad.mit.edu 37 4 155156816 155156816 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr4:155156816G>A ENST00000357232.3 - 25 7622 c.7623C>T c.(7621-7623)atC>atT p.I2541I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2541 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCACCAGGCTGATTGAAAAGC 0.383000 5 27 0 0 0.000602214 0 0 VPS16 64601 broad.mit.edu 37 20 2843503 2843503 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:2843503C>T ENST00000380445.3 + 13 1326 c.1254C>T c.(1252-1254)ttC>ttT p.F418F VPS16_ENST00000380443.3_Silent_p.F104F|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 418 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CCGACAGCTTCGTGCACATGT 0.582000 23 93 0 0 0.00047179 0 0 TLE4 7091 broad.mit.edu 37 9 82267644 82267644 + Missense_Mutation SNP T T C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr9:82267644T>C ENST00000376520.4 + 7 1355 c.527T>C c.(526-528)cTa>cCa p.L176P TLE4_ENST00000376537.4_Missense_Mutation_p.L176P|TLE4_ENST00000376544.3_Missense_Mutation_p.L176P|TLE4_ENST00000376552.2_Missense_Mutation_p.L176P|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L151P|TLE4_ENST00000455913.1_3'UTR O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TCCAGTGCTCTAGGAGGTCAG 0.542000 11 62 0 0 0.000151284 0 0 TTN 7273 broad.mit.edu 37 2 179437377 179437377 + Missense_Mutation SNP A A C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:179437377A>C ENST00000589042.1 - 326 73706 c.73482T>G c.(73480-73482)agT>agG p.S24494R TTN_ENST00000342992.6_Missense_Mutation_p.S21926R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15429R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15621R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15554R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22853R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22853 Fibronectin type-III 78. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATATTTGCCACTGTCAAATC 0.438000 16 55 0 0 0.000958276 0 0 HDAC9 9734 broad.mit.edu 37 7 18631231 18631231 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:18631231C>T ENST00000406451.3 + 5 649 c.499C>T c.(499-501)Cat>Tat p.H167Y HDAC9_ENST00000405010.3_Missense_Mutation_p.H167Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.H170Y|HDAC9_ENST00000524023.1_Missense_Mutation_p.H136Y|HDAC9_ENST00000428307.2_Missense_Mutation_p.H167Y|HDAC9_ENST00000456174.2_Missense_Mutation_p.H139Y|HDAC9_ENST00000417496.2_Missense_Mutation_p.H209Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.H170Y|HDAC9_ENST00000406072.1_Missense_Mutation_p.H198Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.H167Y NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 167 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGGAAAAAATCATTCCGTGAG 0.448000 6 27 0 0 0.000157383 0 0 PCMTD1 115294 broad.mit.edu 37 8 52746112 52746112 + Missense_Mutation SNP A A G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:52746112A>G ENST00000360540.5 - 5 954 c.548T>C c.(547-549)gTt>gCt p.V183A PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.V183A|PCMTD1_ENST00000544451.1_Missense_Mutation_p.V107A NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 183 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TATGCCTCCAACTTTTAGTAA 0.383000 7 52 0 0 0.000274275 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748240 19748240 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr13:19748240C>T ENST00000400113.3 - 5 1220 c.1116G>A c.(1114-1116)caG>caA p.Q372Q NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 372 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ACACAGCCCGCTGCACCTTGG 0.602000 6 36 0 0 3.59834e-05 0 0 OLIG3 167826 broad.mit.edu 37 6 137814843 137814843 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr6:137814843G>A ENST00000367734.2 - 1 688 c.465C>T c.(463-465)caC>caT p.H155H NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) AGGCCGAGTGGTGGCCCCCAT 0.672000 5 21 0 0 0.000602214 0 0 GTF2E2 2961 broad.mit.edu 37 8 30464633 30464633 + Missense_Mutation SNP G G T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:30464633G>T ENST00000355904.4 - 6 866 c.584C>A c.(583-585)cCc>cAc p.P195H GTF2E2_ENST00000522833.1_5'UTR NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 195 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTCTTATCGGGACGATTTAC 0.303000 8 55 7.48243e-07 1.28023e-05 0.000442599 1 0 FLNC 2318 broad.mit.edu 37 7 128478742 128478742 + Silent SNP T T C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:128478742T>C ENST00000325888.8 + 8 1557 c.1296T>C c.(1294-1296)ggT>ggC p.G432G FLNC_ENST00000346177.6_Silent_p.G432G NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 432 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGGACAAGGGTGACAGCACGT 0.652000 18 83 0 0 0.00074312 0 0 LIG1 3978 broad.mit.edu 37 19 48619170 48619170 + Missense_Mutation SNP C C G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:48619170C>G ENST00000263274.7 - 27 3055 c.2636G>C c.(2635-2637)cGt>cCt p.R879P LIG1_ENST00000536218.1_Missense_Mutation_p.R811P|LIG1_ENST00000427526.2_Missense_Mutation_p.R848P NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 879 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTTGTCTTCACGGACTCGAAT 0.637000 Nucleotide excision repair (NER) 3 10 0 0 6.4e-05 0 0 OR9A2 135924 broad.mit.edu 37 7 142723983 142723983 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:142723983C>T ENST00000350513.2 - 1 299 c.237G>A c.(235-237)atG>atA p.M79I NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) CCCAAAGCATCATGGGGACAA 0.478000 6 77 0 0 3.59834e-05 0 0 TEX13A 56157 broad.mit.edu 37 X 104464008 104464008 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:104464008C>T ENST00000413579.1 - 5 979 c.868G>A c.(868-870)Gaa>Aaa p.E290K IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.Q290Q|TEX13A_ENST00000372578.3_Silent_p.Q290Q|IL1RAPL2_ENST00000372582.1_Intron Q9BXU3 TX13A_HUMAN testis expressed 13A 290 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GGAAGAGGTTCTGATGAGGCT 0.522000 6 43 0 0 3.59834e-05 0 0 KRT28 162605 broad.mit.edu 37 17 38954573 38954573 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:38954573C>T ENST00000306658.7 - 3 669 c.604G>A c.(604-606)Gag>Aag p.E202K NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 202 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity p.E202*(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) AGCGTCAGCTCGTCCAGGACT 0.498000 12 59 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9059369 9059369 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:9059369C>T ENST00000397910.4 - 3 28280 c.28077G>A c.(28075-28077)agG>agA p.R9359R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9361 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGATTCTTTCCTTGTGAGGG 0.517000 5 68 0 0 0.000602214 0 0 HLF 3131 broad.mit.edu 37 17 53345447 53345447 + Splice_Site SNP G G C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:53345447G>C ENST00000226067.5 + 2 924 c.451_splice c.e2+1 p.G151_splice HLF_ENST00000575345.1_Splice_Site_p.G66_splice|HLF_ENST00000573945.1_Splice_Site_p.G66_splice|HLF_ENST00000430986.2_Splice_Site_p.G66_splice NM_002126.4 NP_002117.1 Q16534 HLF_HUMAN hepatic leukemia factor 151 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 CATCAGACCAGGTAAGTGCCC 0.562000 T TCF3 ALL 5 29 0 0 3.59834e-05 0 0 KRT6A 3853 broad.mit.edu 37 12 52881517 52881517 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr12:52881517C>T ENST00000330722.6 - 9 1750 c.1682G>A c.(1681-1683)aGc>aAc p.S561N NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 561 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GTGCTTATAGCTCTTCCTGCT 0.597000 10 36 0 0 0.000673444 0 0 PLCB4 5332 broad.mit.edu 37 20 9404488 9404488 + Nonsense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:9404488C>T ENST00000378501.2 + 24 2392 c.2377C>T c.(2377-2379)Caa>Taa p.Q793* PLCB4_ENST00000414679.2_Nonsense_Mutation_p.Q805*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.Q805*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.Q793*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.Q793*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.Q793* NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 793 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TGATGGCCTCCAAGCCGGATA 0.443000 7 24 0 0 0.000157383 0 0 VWF 7450 broad.mit.edu 37 12 6103338 6103338 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr12:6103338G>A ENST00000261405.5 - 37 6542 c.6288C>T c.(6286-6288)ttC>ttT p.F2096F NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2096 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCCTCAGCATGAAGTCATTGG 0.502000 10 18 0 0 0.000442599 0 0 GPR179 440435 broad.mit.edu 37 17 36486526 36486526 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:36486526G>A ENST00000342292.4 - 11 2946 c.2926C>T c.(2926-2928)Ctg>Ttg p.L976L NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 976 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) actggtgccagggcaggggct 0.617000 4 26 0 0 0.00024832 0 0 TMEM132E 124842 broad.mit.edu 37 17 32959919 32959919 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:32959919C>T ENST00000321639.5 + 7 1737 c.1409C>T c.(1408-1410)cCc>cTc p.P470L NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 470 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCTATCCTCCCCGACCGGAGG 0.592000 10 47 0 0 0.000673444 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 44 0 0 0.000602214 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243475 23243475 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:23243475G>A ENST00000356206.6 - 13 1917 c.1682C>T c.(1681-1683)gCc>gTc p.A561V LOXL2_ENST00000389131.3_Intron Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 0 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) gtgtttggtggccccatatgg 0.458000 5 55 0 0 3.59834e-05 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69049632 69049632 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:69049632C>T ENST00000295381.3 + 10 1777 c.1358C>T c.(1357-1359)gCt>gTt p.A453V ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A414V|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A454V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A447V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A446V|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.A147V NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 453 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TTGACATCAGCTTTTCAGGGT 0.478000 17 50 0 0 0.000566183 0 0 PC 5091 broad.mit.edu 37 11 66618334 66618334 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:66618334G>A ENST00000393960.1 - 18 2565 c.2284C>T c.(2284-2286)Cgc>Tgc p.R762C PC_ENST00000393958.2_Missense_Mutation_p.R762C|PC_ENST00000393955.2_Missense_Mutation_p.R762C NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 762 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TCGGGGAAGCGGTCCCGGAGG 0.657000 5 13 0 0 3.59834e-05 0 0 SGCZ 137868 broad.mit.edu 37 8 14022128 14022128 + Missense_Mutation SNP C C G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:14022128C>G ENST00000382080.1 - 5 1223 c.508G>C c.(508-510)Gat>Cat p.D170H RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Missense_Mutation_p.D123H NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 157 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTAATCTCATCTTCATCTGCA 0.413000 5 44 0 0 0.000602214 0 0 LAMB3 3914 broad.mit.edu 37 1 209805978 209805978 + Missense_Mutation SNP G G A rs145575474 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:209805978G>A ENST00000391911.1 - 7 1161 c.772C>T c.(772-774)Cgc>Tgc p.R258C LAMB3_ENST00000356082.4_Missense_Mutation_p.R258C|LAMB3_ENST00000367030.3_Missense_Mutation_p.R258C NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 258 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity p.R258C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGTGCGCAGCGATCAGCATGG 0.677000 10 28 0 0 0.000978159 0 0 SIRPG 55423 broad.mit.edu 37 20 1616064 1616064 + Nonsense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:1616064C>T ENST00000381580.1 - 4 1010 c.831G>A c.(829-831)tgG>tgA p.W277* SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000303415.3_Nonsense_Mutation_p.W310*|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 310 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 ACCAGCTTGTCCAGTTGTAGG 0.547000 6 78 0 0 3.59834e-05 0 0 SLC1A3 6507 broad.mit.edu 37 5 36686225 36686225 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr5:36686225G>A ENST00000265113.4 + 10 1959 c.1483G>A c.(1483-1485)Gag>Aag p.E495K SLC1A3_ENST00000381918.3_Missense_Mutation_p.E450K|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 495 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGATTGTGGAGCACTTGTC 0.517000 7 59 0 0 0.000442599 0 0 TLK2 11011 broad.mit.edu 37 17 60613535 60613535 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:60613535G>A ENST00000326270.9 + 7 636 c.368G>A c.(367-369)cGa>cAa p.R123Q TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000542523.1_Missense_Mutation_p.R91Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R123Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R91Q Q86UE8 TLK2_HUMAN tousled-like kinase 2 123 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTCCAGCGACGAGTAGAACAG 0.438000 7 25 0 0 0.000274275 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638497 18638497 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:18638497G>A ENST00000449552.2 + 7 2255 c.771G>A c.(769-771)ggG>ggA p.G257G TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G257G|TRIM16L_ENST00000395672.2_Silent_p.G257G|TRIM16L_ENST00000395671.4_Silent_p.G257G|TRIM16L_ENST00000395902.3_Silent_p.G311G|TRIM16L_ENST00000572555.1_Silent_p.G257G Q309B1 TR16L_HUMAN tripartite motif containing 16-like 257 B30.2/SPRY. cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 AATGGAACGGGAAGGAGTTCA 0.557000 13 63 0 0 0.000219431 0 0 DNAJB13 374407 broad.mit.edu 37 11 73681103 73681103 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:73681103C>T ENST00000339764.1 + 8 1646 c.895C>T c.(895-897)Ccc>Tcc p.P299S DNAJB13_ENST00000543947.1_Missense_Mutation_p.P124S|DNAJB13_ENST00000537753.1_Missense_Mutation_p.P124S|RP11-167N4.2_ENST00000537019.1_RNA NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 299 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) CATCCAGTTCCCCACCCGCCT 0.597000 7 50 0 0 0.000157383 0 0 MTM1 4534 broad.mit.edu 37 X 149807437 149807437 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:149807437G>A ENST00000370396.2 + 7 520 c.466G>A c.(466-468)Gaa>Aaa p.E156K MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.E119K|MTM1_ENST00000543350.1_Missense_Mutation_p.E41K|MTM1_ENST00000542741.1_Missense_Mutation_p.E61K NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 156 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) ATTTTTAAATGAAGAAAAGTT 0.348000 10 82 0 0 0.000978159 0 0 VASH2 79805 broad.mit.edu 37 1 213134585 213134585 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:213134585G>A ENST00000366968.4 + 4 509 c.159G>A c.(157-159)atG>atA p.M53I VASH2_ENST00000517399.1_Missense_Mutation_p.M118I|VASH2_ENST00000366965.2_Missense_Mutation_p.M118I|VASH2_ENST00000366966.2_Missense_Mutation_p.M53I|VASH2_ENST00000366964.3_5'UTR|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Missense_Mutation_p.M14I NM_001136474.1 NP_001129946.1 Q86V25 VASH2_HUMAN vasohibin 2 118 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) AGAATTACATGAAGACCCTAC 0.542000 23 83 0 0 0.00047179 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147964199 147964199 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:147964199C>T ENST00000361727.3 + 21 3972 c.3456C>T c.(3454-3456)ctC>ctT p.L1152L CNTNAP2_ENST00000538075.1_Silent_p.L211L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1152 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAAGTCGCTCTTTCTGGGAA 0.408000 HNSCC(39;0.1) 21 71 0 0 0.000175454 0 0 KRT15 3866 broad.mit.edu 37 17 39672200 39672200 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:39672200C>T ENST00000254043.3 - 5 4548 c.963G>A c.(961-963)gaG>gaA p.E321E KRT15_ENST00000393981.3_Silent_p.E156E|KRT15_ENST00000393974.3_Silent_p.E156E|KRT15_ENST00000393976.2_Silent_p.E321E NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 321 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) GGTCTGTGATCTCCGTCTTGC 0.597000 12 101 0 0 0.000151284 0 0 EYA1 2138 broad.mit.edu 37 8 72129059 72129059 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:72129059G>A ENST00000340726.3 - 14 1867 c.1228C>T c.(1228-1230)Cct>Tct p.P410S EYA1_ENST00000388742.4_Missense_Mutation_p.P410S|EYA1_ENST00000388740.3_Missense_Mutation_p.P377S|EYA1_ENST00000388741.2_Missense_Mutation_p.P376S|EYA1_ENST00000419131.1_Missense_Mutation_p.P375S|EYA1_ENST00000303824.7_Missense_Mutation_p.P404S|EYA1_ENST00000388743.2_Missense_Mutation_p.P409S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 410 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCTGCAGCAGGAAAGCCATCT 0.433000 18 49 0 0 0.00074312 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960047 73960047 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:73960047G>A ENST00000373468.1 - 3 4996 c.4345C>T c.(4345-4347)Cgt>Tgt p.R1449C KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1449C Q5QGS0 K2022_HUMAN KIAA2022 1449 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GATTTGTGACGATACAACTTT 0.453000 12 67 0 0 0.000151284 0 0 PTPN2 5771 broad.mit.edu 37 18 12794451 12794451 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr18:12794451C>T ENST00000309660.5 - 9 1167 c.1074G>A c.(1072-1074)aaG>aaA p.K358K PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Silent_p.K358K|PTPN2_ENST00000591497.1_Silent_p.K329K|PTPN2_ENST00000591115.1_Silent_p.K381K NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 358 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) CTGTGGTGGCCTTTCTGTCCT 0.423000 11 22 0 0 0.000978159 0 0 HTATSF1 27336 broad.mit.edu 37 X 135584969 135584969 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:135584969G>A ENST00000535601.1 + 6 1025 c.603G>A c.(601-603)ttG>ttA p.L201L HTATSF1_ENST00000218364.4_Silent_p.L201L NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 201 RRM 1. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TAAAACTTTTGGATGAAGATG 0.328000 10 64 0 0 0.00010058 0 0 PSMA6 5687 broad.mit.edu 37 14 35780021 35780021 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr14:35780021C>T ENST00000261479.4 + 4 449 c.329C>T c.(328-330)cCt>cTt p.P110L KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.P91L|PSMA6_ENST00000553809.1_Missense_Mutation_p.P110L|PSMA6_ENST00000555764.1_Missense_Mutation_p.P31L|PSMA6_ENST00000556506.1_Missense_Mutation_p.P110L NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 110 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) TATGAGATTCCTGTGGACATG 0.423000 5 27 0 0 3.59834e-05 0 0 UNC13C 440279 broad.mit.edu 37 15 54685348 54685348 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:54685348G>A ENST00000545554.1 + 17 4816 c.4816G>A c.(4816-4818)Gat>Aat p.D1606N UNC13C_ENST00000260323.11_Missense_Mutation_p.D1606N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1604N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1606 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TATTGATGAGGATAAAACTGC 0.353000 4 21 0 0 0.000602214 0 0 ZNF436 80818 broad.mit.edu 37 1 23689214 23689214 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:23689214G>A ENST00000314011.4 - 4 797 c.661C>T c.(661-663)Cct>Tct p.P221S ZNF436_ENST00000374609.1_Missense_Mutation_p.P221S|ZNF436_ENST00000374608.3_Missense_Mutation_p.P221S NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CATTTGTGAGGCTTCTCTCCA 0.463000 19 56 0 0 0.000175454 0 0 GLP2R 9340 broad.mit.edu 37 17 9760794 9760794 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:9760794C>T ENST00000262441.5 + 6 1179 c.666C>T c.(664-666)atC>atT p.I222I GLP2R_ENST00000574745.1_Silent_p.I42I NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 222 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CTTCTTTCATCCTGAGAACCC 0.493000 7 36 0 0 8.12818e-05 0 0 PREX2 80243 broad.mit.edu 37 8 68995598 68995598 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:68995598G>A ENST00000288368.4 + 18 2279 c.2002G>A c.(2002-2004)Gtt>Att p.V668I PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 668 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACCTCTAAGAGTTCTTGTGAG 0.313000 10 43 0 0 0.000673444 0 0 PET112 5188 broad.mit.edu 37 4 152593947 152593947 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr4:152593947G>A ENST00000263985.6 - 12 1552 c.1512C>T c.(1510-1512)ctC>ctT p.L504L PET112_ENST00000507592.1_5'UTR|PET112_ENST00000515812.1_Silent_p.L463L NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 504 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGAGTGGCAGAGCTGCTCCA 0.587000 7 21 0 0 0.000157383 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147964200 147964200 + Missense_Mutation SNP T T A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:147964200T>A ENST00000361727.3 + 21 3973 c.3457T>A c.(3457-3459)Ttt>Att p.F1153I CNTNAP2_ENST00000538075.1_Missense_Mutation_p.F212I NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1153 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAAGTCGCTCTTTCTGGGAAA 0.408000 HNSCC(39;0.1) 21 70 0 0 0.000229342 0 0 GPR50 9248 broad.mit.edu 37 X 150348809 150348809 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:150348809C>T ENST00000218316.3 + 2 823 c.754C>T c.(754-756)Cct>Tct p.P252S NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 252 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GTGCTGGTGCCCTATCAACGT 0.512000 10 55 0 0 0.000978159 0 0 ANK3 288 broad.mit.edu 37 10 61819111 61819111 + Nonsense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr10:61819111G>A ENST00000280772.1 - 41 12864 c.12673C>T c.(12673-12675)Cga>Tga p.R4225* ANK3_ENST00000503366.1_Nonsense_Mutation_p.R1716*|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Nonsense_Mutation_p.R849*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R1709* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4225 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCATCCAGTCGATCTAGTAAC 0.398000 9 72 0 0 0.000442599 0 0 USH2A 7399 broad.mit.edu 37 1 216420487 216420487 + Missense_Mutation SNP T T C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:216420487T>C ENST00000366943.2 - 13 2635 c.2249A>G c.(2248-2250)aAc>aGc p.N750S USH2A_ENST00000366942.3_Missense_Mutation_p.N750S|USH2A_ENST00000307340.3_Missense_Mutation_p.N750S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 750 Laminin EGF-like 5. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCCATGGAGGTTACACTGGCA 0.413000 HNSCC(13;0.011) 24 64 0 0 0.000586117 0 0 DNAH5 1767 broad.mit.edu 37 5 13841027 13841027 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr5:13841027G>A ENST00000265104.4 - 34 5801 c.5697C>T c.(5695-5697)atC>atT p.I1899I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1899 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I1899M(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGTCATCAAAGATATCCCTTT 0.383000 Kartagener syndrome 5 25 0 0 0.000602214 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 49 0 0 0.000157383 0 0 TLE3 7090 broad.mit.edu 37 15 70368486 70368486 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:70368486C>T ENST00000558939.1 - 5 1623 c.246G>A c.(244-246)gcG>gcA p.A82A TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Silent_p.A82A|TLE3_ENST00000559048.1_Silent_p.A88A|TLE3_ENST00000557997.1_Silent_p.A82A|TLE3_ENST00000557907.1_Silent_p.A82A|TLE3_ENST00000539550.1_Silent_p.A16A|TLE3_ENST00000560589.1_Silent_p.A26A|TLE3_ENST00000558379.1_Silent_p.A82A|TLE3_ENST00000558201.1_Silent_p.A88A|TLE3_ENST00000442299.2_Silent_p.A82A|TLE3_ENST00000440567.3_Silent_p.A75A|TLE3_ENST00000559929.1_Silent_p.A82A|TLE3_ENST00000560939.1_Silent_p.A88A|TLE3_ENST00000451782.2_Silent_p.A82A Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 82 Gln-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCAGTCTCTTCGCAATCTCTG 0.423000 9 77 0 0 0.00010058 0 0 PMFBP1 83449 broad.mit.edu 37 16 72174358 72174358 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr16:72174358C>T ENST00000537465.1 - 6 918 c.760G>A c.(760-762)Gat>Aat p.D254N PMFBP1_ENST00000237353.10_Missense_Mutation_p.D254N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.D109N Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 254 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGAATGAGATCATCCTGTTGA 0.448000 15 156 0 0 0.000308642 0 0 CPE 1363 broad.mit.edu 37 4 166416768 166416768 + Nonsense_Mutation SNP C C G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr4:166416768C>G ENST00000402744.4 + 8 1551 c.1271C>G c.(1270-1272)tCa>tGa p.S424* NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 424 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTACAGCCTCAGCTCCAGGC 0.393000 8 65 0 0 0.000274275 0 0 ZNF568 374900 broad.mit.edu 37 19 37428087 37428087 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:37428087G>A ENST00000415168.1 + 4 485 c.109G>A c.(109-111)Gag>Aag p.E37K ZNF568_ENST00000333987.7_Missense_Mutation_p.E101K|ZNF568_ENST00000455427.2_Missense_Mutation_p.E37K|ZNF568_ENST00000427117.1_Missense_Mutation_p.E101K NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTCAAGTTGGAGCAAGAAGA 0.453000 5 37 0 0 3.59834e-05 0 0 PKHD1 5314 broad.mit.edu 37 6 51774107 51774107 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr6:51774107G>A ENST00000371117.3 - 40 6931 c.6656C>T c.(6655-6657)tCa>tTa p.S2219L PKHD1_ENST00000340994.4_Missense_Mutation_p.S2219L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2219 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGAGTGAGTGAGCTCAGATG 0.512000 10 47 0 0 0.000978159 0 0 NKAP 79576 broad.mit.edu 37 X 119072753 119072753 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:119072753C>T ENST00000371410.3 - 2 573 c.407G>A c.(406-408)aGa>aAa p.R136K NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 136 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 TTCTCCAATTCTCTCTCTCTC 0.318000 9 78 0 0 0.000274275 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122474149 122474149 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:122474149G>A ENST00000306103.2 - 5 842 c.699C>T c.(697-699)ttC>ttT p.F233F HSPBAP1_ENST00000383659.1_3'UTR|HSPBAP1_ENST00000465044.1_5'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 233 JmjC. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) GAGCTTTCCGGAACTGAGGAA 0.418000 8 36 0 0 0.000274275 0 0 EXPH5 23086 broad.mit.edu 37 11 108381787 108381787 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:108381787C>T ENST00000265843.4 - 6 4557 c.4447G>A c.(4447-4449)Gaa>Aaa p.E1483K EXPH5_ENST00000443411.1_Missense_Mutation_p.E1295K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1476K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1407K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1483 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCTCTGCCTTCCCTAGGCTGT 0.473000 5 28 0 0 0.000602214 0 0 IFT122 55764 broad.mit.edu 37 3 129237958 129237958 + Missense_Mutation SNP A A G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:129237958A>G ENST00000296266.3 + 29 3745 c.3553A>G c.(3553-3555)Att>Gtt p.I1185V IFT122_ENST00000507564.1_Missense_Mutation_p.I1127V|IFT122_ENST00000349441.2_Missense_Mutation_p.I1024V|IFT122_ENST00000347300.2_Missense_Mutation_p.I1075V|IFT122_ENST00000440957.2_Missense_Mutation_p.I925V|IFT122_ENST00000348417.2_Missense_Mutation_p.I1134V|IFT122_ENST00000431818.2_Missense_Mutation_p.I984V|IFT122_ENST00000504021.1_Missense_Mutation_p.I1011V NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 1134 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 AGGCTCCCAGATTCTGCGGCT 0.572000 8 60 0 0 0.000978159 0 0 AKNAD1 254268 broad.mit.edu 37 1 109363229 109363229 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:109363229C>T ENST00000370001.3 - 14 2455 c.2187G>A c.(2185-2187)cgG>cgA p.R729R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 729 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 GAGAACAGATCCGTTTGGGTT 0.333000 12 40 0 0 0.000151284 0 0 FMO2 2327 broad.mit.edu 37 1 171162617 171162617 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:171162617G>A ENST00000441535.1 + 3 393 c.276G>A c.(274-276)agG>agA p.R92R RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000209929.7_Silent_p.R92R NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 92 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AATATTTCAGGATTTTTGCTA 0.338000 11 25 0 0 0.00010058 0 0 ABCB1 5243 broad.mit.edu 37 7 87196132 87196132 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:87196132C>T ENST00000265724.3 - 7 916 c.499G>A c.(499-501)Gat>Aat p.D167N ABCB1_ENST00000543898.1_Intron NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 167 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCCCCAACATCGTGCACATCA 0.383000 5 45 0 0 0.000602214 0 0 UGT3A2 167127 broad.mit.edu 37 5 36052010 36052010 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr5:36052010C>T ENST00000282507.3 - 3 374 c.273G>A c.(271-273)aaG>aaA p.K91K UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.K57K|UGT3A2_ENST00000545528.1_5'UTR NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 91 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATCAAAACTCTTTTTAAATT 0.303000 4 38 0 0 0.00024832 0 0 TMEM257 9142 broad.mit.edu 37 X 144909378 144909378 + Missense_Mutation SNP T T A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:144909378T>A ENST00000408967.2 + 1 451 c.183T>A c.(181-183)ttT>ttA p.F61L NM_004709.2 NP_004700.1 transmembrane protein 257 TTTTTATTTTTATCTTCCACA 0.353000 8 61 0 0 0.000673444 0 0 GCN1L1 10985 broad.mit.edu 37 12 120585034 120585034 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr12:120585034C>T ENST00000300648.6 - 38 4781 c.4769G>A c.(4768-4770)aGg>aAg p.R1590K NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1590 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGGGTCTTCCTGGAGGGATC 0.557000 6 16 0 0 3.59834e-05 0 0 CXXC1 30827 broad.mit.edu 37 18 47808968 47808968 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr18:47808968G>A ENST00000285106.6 - 15 2680 c.1966C>T c.(1966-1968)Cgc>Tgc p.R656C CXXC1_ENST00000412036.2_Missense_Mutation_p.R660C|CXXC1_ENST00000589940.1_3'UTR NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 656 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 GAGGCTCAGCGGTCGGCACTG 0.652000 20 53 0 0 0.000295444 0 0 SIRPG 55423 broad.mit.edu 37 20 1616065 1616065 + Nonsense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:1616065C>T ENST00000381580.1 - 4 1009 c.830G>A c.(829-831)tGg>tAg p.W277* SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000303415.3_Nonsense_Mutation_p.W310*|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 310 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 CCAGCTTGTCCAGTTGTAGGT 0.542000 6 78 0 0 3.59834e-05 0 0 RIPK3 11035 broad.mit.edu 37 14 24805428 24805428 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr14:24805428C>T ENST00000216274.5 - 10 1728 c.1510G>A c.(1510-1512)Gaa>Aaa p.E504K RP11-934B9.3_ENST00000555591.1_Intron NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 504 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) CTCCAGGCTTCAGGATCTTTA 0.567000 5 45 0 0 0.000602214 0 0 CAPSL 133690 broad.mit.edu 37 5 35910623 35910623 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr5:35910623C>T ENST00000397367.2 - 3 286 c.160G>A c.(160-162)Gat>Aat p.D54N CAPSL_ENST00000397366.1_Missense_Mutation_p.D54N|CAPSL_ENST00000514524.1_Missense_Mutation_p.D54N NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 54 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CGATTATTATCGTCATCCATA 0.313000 6 33 0 0 3.59834e-05 0 0 BSN 8927 broad.mit.edu 37 3 49679978 49679978 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:49679978C>T ENST00000296452.4 + 3 1025 c.911C>T c.(910-912)cCt>cTt p.P304L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 304 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGGGTGTCTCCTCAGCCCCCT 0.701000 5 8 0 0 3.59834e-05 0 0 TAGAP 117289 broad.mit.edu 37 6 159457477 159457477 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr6:159457477C>T ENST00000367066.3 - 10 1909 c.1578G>A c.(1576-1578)gcG>gcA p.A526A RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.A348A|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 526 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCCCAGAGCCCGCGCTGAGGT 0.527000 9 51 0 0 0.000442599 0 0 PDE1A 5136 broad.mit.edu 37 2 183095762 183095762 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:183095762C>T ENST00000435564.1 - 5 762 c.562G>A c.(562-564)Gat>Aat p.D188N PDE1A_ENST00000536095.1_Missense_Mutation_p.D84N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D154N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D188N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D188N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D188N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D172N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D172N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D188N|PDE1A_ENST00000482538.1_5'UTR NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 188 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.D188N(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTGATAAGATCATATCTGGTA 0.338000 17 56 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179431326 179431326 + Silent SNP G G T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:179431326G>T ENST00000589042.1 - 326 79757 c.79533C>A c.(79531-79533)ccC>ccA p.P26511P TTN_ENST00000342992.6_Silent_p.P23943P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.P17446P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.P17638P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P17571P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P24870P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24870 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCATAGATGGGTTTACCCC 0.438000 7 157 0.000157383 0.00267647 0.000157383 1 0 PRSS21 10942 broad.mit.edu 37 16 2871436 2871436 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr16:2871436G>A ENST00000455114.1 + 6 875 c.769G>A c.(769-771)Gga>Aga p.G257R PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.G245R|PRSS21_ENST00000005995.3_Missense_Mutation_p.G259R NM_001270452.1|NM_006799.3|NM_144956.2 NP_001257381.1|NP_006790.1|NP_659205.1 Q9Y6M0 TEST_HUMAN protease, serine, 21 (testisin) 259 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 CGTGAGCTGGGGAGTGGGCTG 0.597000 8 19 0 0 0.000157383 0 0 API5 8539 broad.mit.edu 37 11 43364103 43364103 + Missense_Mutation SNP A A G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:43364103A>G ENST00000534695.1 + 4 437 c.272A>G c.(271-273)tAc>tGc p.Y91C API5_ENST00000455725.2_3'UTR|API5_ENST00000531273.1_3'UTR|API5_ENST00000378852.3_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000420461.2_3'UTR Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 0 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 AGCTTAATATACTTAAATTCT 0.418000 3 29 0 0 6.4e-05 0 0 HSF5 124535 broad.mit.edu 37 17 56565428 56565428 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:56565428C>T ENST00000323777.3 - 1 317 c.208G>A c.(208-210)Gag>Aag p.E70K NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 70 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTGAAGAGCTCGGGCTcggcc 0.721000 5 22 0 0 3.59834e-05 0 0 PSMA6 5687 broad.mit.edu 37 14 35780020 35780020 + Missense_Mutation SNP C C T rs78322008 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr14:35780020C>T ENST00000261479.4 + 4 448 c.328C>T c.(328-330)Cct>Tct p.P110S KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.P91S|PSMA6_ENST00000553809.1_Missense_Mutation_p.P110S|PSMA6_ENST00000555764.1_Missense_Mutation_p.P31S|PSMA6_ENST00000556506.1_Missense_Mutation_p.P110S NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 110 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CTATGAGATTCCTGTGGACAT 0.423000 5 27 0 0 3.59834e-05 0 0 KRT13 3860 broad.mit.edu 37 17 39661352 39661352 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr17:39661352C>T ENST00000246635.3 - 1 497 c.451G>A c.(451-453)Gac>Aac p.D151N KRT13_ENST00000336861.3_Missense_Mutation_p.D151N|KRT13_ENST00000587544.1_Missense_Mutation_p.D151N NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 151 Linker 1.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GGGCTGTAGTCCCGCTCAGGG 0.622000 4 34 0 0 0.00024832 0 0 PC 5091 broad.mit.edu 37 11 66618319 66618319 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:66618319G>A ENST00000393960.1 - 18 2580 c.2299C>T c.(2299-2301)Cca>Tca p.P767S PC_ENST00000393958.2_Missense_Mutation_p.P767S|PC_ENST00000393955.2_Missense_Mutation_p.P767S NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 767 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ATGTGCAGTGGGAGGTCGGGG 0.662000 5 14 0 0 3.59834e-05 0 0 CEP350 9857 broad.mit.edu 37 1 179989667 179989667 + Missense_Mutation SNP A A G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:179989667A>G ENST00000367607.3 + 12 3176 c.2758A>G c.(2758-2760)Aaa>Gaa p.K920E NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 920 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TAGTGAATTTAAAAAGCTTCC 0.428000 12 31 0 0 0.00010058 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822881 56822881 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr12:56822881G>A ENST00000229201.4 - 11 1241 c.1087C>T c.(1087-1089)Cac>Tac p.H363Y TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.H364Y NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 364 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CGAAGCAGGTGATCCTGACAT 0.488000 5 14 0 0 0.000602214 0 0 MCUR1 63933 broad.mit.edu 37 6 13802496 13802496 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr6:13802496A>T ENST00000379170.4 - 3 756 c.618T>A c.(616-618)gaT>gaA p.D206E NM_001031713.3 NP_001026883.1 mitochondrial calcium uniporter regulator 1 TGGTGACCATATCTTTGTAGA 0.408000 8 42 0 0 0.000274275 0 0 ITIH3 3699 broad.mit.edu 37 3 52836750 52836750 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:52836750G>A ENST00000449956.2 + 13 1643 c.1637G>A c.(1636-1638)cGg>cAg p.R546Q ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 546 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGCAGGAGCGGGACTACATC 0.607000 10 32 0 0 0.000978159 0 0 POC1A 25886 broad.mit.edu 37 3 52130714 52130714 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:52130714G>A ENST00000296484.2 - 10 1035 c.996C>T c.(994-996)ttC>ttT p.F332F POC1A_ENST00000474012.1_Silent_p.F294F|POC1A_ENST00000394970.2_Intron NM_015426.4 NP_056241.3 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 332 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 GGGGGACAGGGAAGTCCACTT 0.542000 10 57 0 0 0.00010058 0 0 GCN1L1 10985 broad.mit.edu 37 12 120587453 120587453 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr12:120587453G>A ENST00000300648.6 - 36 4515 c.4503C>T c.(4501-4503)tcC>tcT p.S1501S NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1501 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCCAGTAAGGAGGGGAGCA 0.572000 4 31 0 0 0.000602214 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555957 76555957 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr16:76555957C>T ENST00000307431.8 + 18 2940 c.2555C>T c.(2554-2556)tCa>tTa p.S852L CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S856L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S804L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S780L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 853 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GTGACTTTTTCATTTGATGTG 0.448000 13 115 0 0 0.000422831 0 0 ACSM2A 123876 broad.mit.edu 37 16 20492171 20492171 + Silent SNP G G A rs149737523 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr16:20492171G>A ENST00000573854.1 + 12 1551 c.1437G>A c.(1435-1437)gaG>gaA p.E479E ACSM2A_ENST00000536134.1_Silent_p.E251E|ACSM2A_ENST00000396104.2_Silent_p.E479E|ACSM2A_ENST00000219054.6_Silent_p.E479E|ACSM2A_ENST00000575690.1_Silent_p.E479E|ACSM2A_ENST00000417235.2_Silent_p.E400E|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 479 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.E479E(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CGGAGGTAGAGAATGCACTGA 0.587000 6 33 0 0 0.000157383 0 0 FBN2 2201 broad.mit.edu 37 5 127863582 127863582 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr5:127863582C>T ENST00000508053.1 - 10 1489 c.515G>A c.(514-516)gGa>gAa p.G172E FBN2_ENST00000508989.1_Missense_Mutation_p.G139E|FBN2_ENST00000262464.4_Missense_Mutation_p.G172E P35556 FBN2_HUMAN fibrillin 2 172 EGF-like 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACAATAAGTTCCAATATATCC 0.373000 7 34 0 0 0.000157383 0 0 ROBO2 6092 broad.mit.edu 37 3 77629266 77629266 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:77629266A>T ENST00000461745.1 + 16 3397 c.2497A>T c.(2497-2499)Atc>Ttc p.I833F ROBO2_ENST00000487694.3_Missense_Mutation_p.I849F|ROBO2_ENST00000332191.8_Missense_Mutation_p.I833F NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 833 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GCCAATAATAATCGGTGAGTA 0.413000 7 53 0 0 0.000157383 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 28 0 0 0.000602214 0 0 BSPRY 54836 broad.mit.edu 37 9 116132413 116132413 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr9:116132413C>T ENST00000374183.4 + 6 1239 c.1200C>T c.(1198-1200)atC>atT p.I400I BSPRY_ENST00000462085.1_3'UTR NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 400 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CCATTTCTATCGTCCGCTGAC 0.577000 8 29 0 0 0.000157383 0 0 CCHCR1 54535 broad.mit.edu 37 6 31124632 31124632 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr6:31124632G>A ENST00000396268.3 - 3 561 c.373C>T c.(373-375)Ccc>Tcc p.P125S CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.P36S|CCHCR1_ENST00000396263.2_Missense_Mutation_p.P36S NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 36 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 TGGACCAGGGGAATGTCTGAG 0.562000 10 59 0 0 0.000978159 0 0 TMEM63C 57156 broad.mit.edu 37 14 77718139 77718139 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr14:77718139C>T ENST00000298351.4 + 22 2190 c.2046C>T c.(2044-2046)ctC>ctT p.L682L NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 682 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CAGGTTCTCTCCACGCCATCA 0.572000 5 37 0 0 3.59834e-05 0 0 NFXL1 152518 broad.mit.edu 37 4 47907310 47907310 + Nonsense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr4:47907310G>A ENST00000507489.1 - 4 636 c.460C>T c.(460-462)Caa>Taa p.Q154* NFXL1_ENST00000381538.3_Nonsense_Mutation_p.Q154*|NFXL1_ENST00000329043.3_Nonsense_Mutation_p.Q154* NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 154 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 GCCCCTGCTTGAAAAGCTTCA 0.338000 7 72 0 0 0.000157383 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350451 51350451 + Nonsense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:51350451A>T ENST00000327536.5 - 3 605 c.506T>A c.(505-507)tTa>tAa p.L169* RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 169 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) CACCTTGATTAAGTCTTTCAT 0.463000 13 112 0 0 0.000308642 0 0 ITIH5 80760 broad.mit.edu 37 10 7679332 7679332 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr10:7679332C>T ENST00000256861.6 - 5 589 c.511G>A c.(511-513)Gag>Aag p.E171K ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.E171K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E171K NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 171 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGCTGTGCTCGTACTTGCCC 0.592000 6 36 0 0 3.59834e-05 0 0 ABL2 27 broad.mit.edu 37 1 179100501 179100501 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:179100501G>A ENST00000502732.1 - 3 539 c.336C>T c.(334-336)ttC>ttT p.F112F ABL2_ENST00000344730.3_Silent_p.F97F|ABL2_ENST00000511413.1_Silent_p.F112F|ABL2_ENST00000408940.3_Silent_p.F76F|ABL2_ENST00000507173.1_Silent_p.F91F|ABL2_ENST00000367623.4_Silent_p.F91F|ABL2_ENST00000512653.1_Silent_p.F97F|ABL2_ENST00000392043.3_Silent_p.F91F|ABL2_ENST00000504405.1_Silent_p.F76F NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 112 SH3. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AAAGTGCAACGAAGAGATTAG 0.443000 T ETV6 AML 5 19 0 0 0.000602214 0 0 KCNB1 3745 broad.mit.edu 37 20 48098561 48098561 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:48098561C>T ENST00000371741.4 - 1 623 c.457G>A c.(457-459)Gag>Aag p.E153K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 153 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGTAGGGTCTCGGCCTCACGC 0.577000 6 58 0 0 3.59834e-05 0 0 ITGAM 3684 broad.mit.edu 37 16 31284771 31284771 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr16:31284771G>A ENST00000544665.3 + 8 861 c.790G>A c.(790-792)Gat>Aat p.D264N ITGAM_ENST00000287497.8_Missense_Mutation_p.D264N NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 264 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AAAGTTTGGCGATCCCTTGGG 0.498000 6 36 0 0 3.59834e-05 0 0 LONRF2 164832 broad.mit.edu 37 2 100925677 100925677 + Missense_Mutation SNP A A T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr2:100925677A>T ENST00000393437.3 - 2 1329 c.690T>A c.(688-690)gaT>gaA p.D230E LONRF2_ENST00000409647.1_5'UTR NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 230 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 ATAATGAATTATCATCAGGAG 0.358000 10 38 0 0 0.000442599 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032614 46032614 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr21:46032614C>T ENST00000334662.2 + 1 619 c.597C>T c.(595-597)acC>acT p.T199T TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 199 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 CTTGCTGCACCACCTCCTGCT 0.652000 17 78 0 0 0.000566183 0 0 S100A7A 338324 broad.mit.edu 37 1 153391621 153391621 + Splice_Site SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:153391621G>A ENST00000368729.4 + 3 199 c.141_splice c.e3-1 p.D48_splice S100A7A_ENST00000368728.2_Splice_Site_p.D48_splice|S100A7A_ENST00000329256.2_Splice_Site_p.D48_splice NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 48 EF-hand 1. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CTCTTCACAGGACAAAAAGGG 0.408000 6 22 0 0 3.59834e-05 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 8 21 0 0 0.000157383 0 0 PTPRN2 5799 broad.mit.edu 37 7 157691392 157691392 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:157691392C>T ENST00000389413.3 - 11 1777 c.1674G>A c.(1672-1674)ctG>ctA p.L558L PTPRN2_ENST00000389418.4_Silent_p.L587L|PTPRN2_ENST00000409483.1_Silent_p.L549L|PTPRN2_ENST00000389416.4_Silent_p.L570L|PTPRN2_ENST00000404321.2_Silent_p.L610L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 587 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GAAGAATTTTCAGTCCAGAGG 0.522000 16 149 0 0 0.000566183 0 0 FLNC 2318 broad.mit.edu 37 7 128489398 128489398 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:128489398C>T ENST00000325888.8 + 30 5226 c.4965C>T c.(4963-4965)ggC>ggT p.G1655G FLNC_ENST00000346177.6_Silent_p.G1655G NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1655 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCTGCCTGGGCCCTCGAATCC 0.677000 6 30 0 0 3.59834e-05 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960458 73960458 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:73960458C>T ENST00000373468.1 - 3 4585 c.3934G>A c.(3934-3936)Gaa>Aaa p.E1312K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1312K Q5QGS0 K2022_HUMAN KIAA2022 1312 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCCTGAAATTCCCGTTGGTCA 0.522000 9 86 0 0 0.000274275 0 0 ROBO3 64221 broad.mit.edu 37 11 124745136 124745136 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:124745136C>T ENST00000397801.1 + 14 2395 c.2203C>T c.(2203-2205)Cct>Tct p.P735S ROBO3_ENST00000538940.1_Missense_Mutation_p.P713S NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 735 Fibronectin type-III 2. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) AAGAGGACTCCCTCCAGGGAC 0.582000 5 57 0 0 0.000602214 0 0 GRIA3 2892 broad.mit.edu 37 X 122538614 122538614 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:122538614G>A ENST00000264357.5 + 10 1641 c.1349G>A c.(1348-1350)cGa>cAa p.R450Q GRIA3_ENST00000371251.1_Missense_Mutation_p.R450Q|GRIA3_ENST00000541091.1_Missense_Mutation_p.R434Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R450Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.R450Q NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 450 R -> Q (in MRX94). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) GGAAATGAACGATATGAAGGC 0.388000 8 32 0 0 0.000274275 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665948 19665948 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:19665948G>A ENST00000328041.6 + 12 1464 c.1267G>A c.(1267-1269)Gag>Aag p.E423K NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 423 Poly-Glu. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 gaatgatgaggaggaagagga 0.527000 8 38 0 0 0.000157383 0 0 TNR 7143 broad.mit.edu 37 1 175362984 175362984 + Missense_Mutation SNP T T C TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:175362984T>C ENST00000367674.1 - 6 1996 c.1288A>G c.(1288-1290)Acc>Gcc p.T430A TNR_ENST00000263525.2_Missense_Mutation_p.T430A NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 430 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACCTCCACGGTGGTCTCTGTG 0.493000 11 99 0 0 0.000673444 0 0 OR52N2 390077 broad.mit.edu 37 11 5842271 5842271 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:5842271C>T ENST00000317037.2 + 1 728 c.706C>T c.(706-708)Cgt>Tgt p.R236C TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCAGATGCTCGTCACAAAGC 0.428000 6 64 0 0 3.59834e-05 0 0 C10orf120 399814 broad.mit.edu 37 10 124457771 124457771 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr10:124457771C>T ENST00000329446.4 - 3 517 c.486G>A c.(484-486)gtG>gtA p.V162V NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 162 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TACTGACGTTCACCTGCTCTC 0.468000 12 76 0 0 0.00010058 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654957 161654957 + RNA SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:161654957G>A ENST00000426558.1 - 0 85 NR_002595.1 GTTGATGGCAGAACGGCCCTT 0.547000 6 9 0 0 3.59834e-05 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6974614 6974614 + RNA SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:6974614C>T ENST00000600751.1 - 0 768 NR_024075.1 CATCCCTTTTCGTTTACTAAA 0.403000 7 16 0 0 0.000442599 0 0 SDF4 51150 broad.mit.edu 37 1 1153955 1153955 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr1:1153955G>A ENST00000263741.7 - 6 1087 c.795C>T c.(793-795)acC>acT p.T265T SDF4_ENST00000360001.6_Silent_p.T265T NM_016176.3|NM_016547.2 NP_057260.2|NP_057631.1 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 265 EF-hand 4. cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) GGTTCTCCACGGTGCCCACGG 0.592000 9 21 0 0 0.000274275 0 0 SLC24A3 57419 broad.mit.edu 37 20 19673952 19673952 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr20:19673952C>T ENST00000328041.6 + 13 1571 c.1374C>T c.(1372-1374)ttC>ttT p.F458F RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 458 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CGCTGAGTTTCGTCTTATACT 0.458000 OREG0025804 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 46 0 0 3.59834e-05 0 0 THSD4 79875 broad.mit.edu 37 15 71447214 71447214 + Silent SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:71447214C>T ENST00000355327.3 + 3 176 c.42C>T c.(40-42)ttC>ttT p.F14F THSD4_ENST00000261862.6_Silent_p.F14F|RP11-673C5.2_ENST00000561571.1_RNA Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 14 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCCTGTGTTTCCTTCTGCTGC 0.542000 9 50 0 0 0.000673444 0 0 BSX 390259 broad.mit.edu 37 11 122852195 122852195 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:122852195G>A ENST00000343035.2 - 1 233 c.185C>T c.(184-186)cCc>cTc p.P62L NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 62 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CAAGAGGGTGGGTGTGGGCAT 0.587000 3 4 0 0 6.4e-05 0 0 CALU 813 broad.mit.edu 37 7 128409143 128409143 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr7:128409143C>T ENST00000535011.2 + 6 822 c.670C>T c.(670-672)Cgt>Tgt p.R224C CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000249364.4_Silent_p.I290I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I NM_001199673.1 NP_001186602.1 O43852 CALU_HUMAN calumenin 0 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 AGGAGGAGATCGTTGACAAGT 0.423000 6 42 0 0 8.12818e-05 0 0 ZNF112 7665 broad.mit.edu 37 19 44833712 44833712 + Missense_Mutation SNP G G A rs144019017 TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:44833712G>A ENST00000354340.4 - 4 649 c.598C>T c.(598-600)Cat>Tat p.H200Y ZNF112_ENST00000536500.1_Missense_Mutation_p.H223Y|ZNF112_ENST00000337401.4_Missense_Mutation_p.H206Y NM_013380.3 NP_037512.3 zinc finger protein 112 p.H200Y(1) TTACAGAAATGATTTTTCATG 0.393000 7 66 0 0 8.12818e-05 0 0 ZNF226 7769 broad.mit.edu 37 19 44681046 44681046 + Missense_Mutation SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr19:44681046C>T ENST00000590089.1 + 7 1998 c.1631C>T c.(1630-1632)tCg>tTg p.S544L ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S544L|ZNF226_ENST00000454662.2_Missense_Mutation_p.S544L Q9NYT6 ZN226_HUMAN zinc finger protein 226 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AGTCAAAGTTCGTATCTTCAA 0.443000 12 87 0 0 0.000151284 0 0 HLTF 6596 broad.mit.edu 37 3 148759958 148759958 + Missense_Mutation SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr3:148759958G>A ENST00000310053.5 - 19 2385 c.2192C>T c.(2191-2193)cCc>cTc p.P731L HLTF_ENST00000392912.2_Missense_Mutation_p.P731L|HLTF_ENST00000465259.1_Missense_Mutation_p.P730L|HLTF_ENST00000494055.1_Missense_Mutation_p.P731L NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 731 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CCTACCTGAGGGGCCATTGGA 0.363000 7 38 0 0 0.000274275 0 0 LOC645752 645752 broad.mit.edu 37 15 78211577 78211577 + RNA SNP C C T TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr15:78211577C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTTCCACCTCCTGCCTCAGG 0.552000 10 70 0 0 0.000673444 0 0 BRSK2 9024 broad.mit.edu 37 11 1467078 1467078 + Silent SNP G G A TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:1467078G>A ENST00000308219.9 + 12 1553 c.1167G>A c.(1165-1167)acG>acA p.T389T BRSK2_ENST00000544817.1_Silent_p.T84T|BRSK2_ENST00000382179.1_Silent_p.T435T|BRSK2_ENST00000526678.1_Silent_p.T389T|BRSK2_ENST00000531197.1_Silent_p.T389T|BRSK2_ENST00000528841.1_Silent_p.T389T|BRSK2_ENST00000528710.1_Silent_p.T329T|BRSK2_ENST00000308230.5_Silent_p.T389T NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 389 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) TCAGCGTGACGGACGGCGGCT 0.701000 5 28 0 0 0.000602214 0 0 MROH5 389690 broad.mit.edu 37 8 142517137 142517138 + RNA INS - - T rs56233552 by1000genomes TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr8:142517137_142517138insT ENST00000430863.1 - 0 161 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CGGTGGGGGGGGGTCAGGGGGT 0.658 4 9 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 3 6 --- --- --- --- SLC6A14 11254 broad.mit.edu 37 X 115588915 115588915 + Frame_Shift_Del DEL A A - TCGA-EE-A2M8-06A-12D-A196-08 TCGA-EE-A2M8-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8992de16-80d2-47d7-8d81-4ae0b9f2376e e2077d51-fd1e-4a43-b100-9b58efdff71d g.chrX:115588915delA ENST00000371900.4 + 13 1843 c.1755delA c.(1753-1755)atfs p.I586fs SLC6A14_ENST00000463626.1_Intron NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 586 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TCATAAAAATAATTCAGGCTA 0.333 23 151 --- --- --- ---